Identification and characterization of a novel deletion in the phenylalanine hydroxylase gene of a Chinese patient
| Autor: | Jigang Qiu, Jinping Zhu, Yan-li Zhang, Li Zhang, Sheng-ying Qin, Yong-li Li, Hua-feng Li, Fan Yang, Yu-qiang Huang |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
chemistry.chemical_classification Premature Stop Codon Genetics Phenylalanine hydroxylase biology medicine.disease Genetic analysis Frameshift mutation 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Hyperphenylalaninemia Enzyme chemistry 030220 oncology & carcinogenesis medicine biology.protein Missense mutation Gene |
| Zdroj: | Gene Reports. 21:100819 |
| ISSN: | 2452-0144 |
| DOI: | 10.1016/j.genrep.2020.100819 |
| Popis: | Genetic analysis of 111 patients with phenylketonuria or hyperphenylalaninemia has uncovered a novel 8 bp deletion variant in the phenylalanine hydroxylase gene. The novel deletion mutation c.1034_1041del generated a protein-coding frameshift and resulted in a premature stop codon rendering severe disruption of enzymatic activity. Molecular and clinical evidence also implies that the missense mutation c.301G>A is likely to be mildly pathogenic, although it was previously reported as a benign variant. |
| Databáze: | OpenAIRE |
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